Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	1,544,022	1 bp→AA	coding (39/1389 nt)	narU ←	nitrate/nitrite transporter

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	1,544,021	1	.	A	83.7%	143.3 / 24.7	49	coding (40/1389 nt)	narU	nitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base . (5/3);  new base A (26/15);  total (31/18)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00
*	NC_000913_3_hsa_tpiA	1,544,022	0	C	A	97.9%	163.2 / ‑5.0	49	L13F (TTG→TTT)	narU	nitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base C (1/0);  new base A (29/18);  total (31/18)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.86e-01

ATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑C‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAA  >  NC_000913_3_hsa_tpiA/1543884‑1544169                                                                                                                                             |||                                                                                                                                                     aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAAc                                                                                                                                           <  1:27839/150‑1 (MQ=255) aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAAc                                                                                                                                           >  1:373012/1‑150 (MQ=255)             tGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTtct                                                                                                                               >  1:80528/1‑150 (MQ=255)                 cTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCAtt                                                                                                                           >  2:90523/1‑150 (MQ=255)                  tAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCAttt                                                                                                                          >  1:350874/1‑150 (MQ=255)                   aaaTAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTtttttt                                                                                                                         >  4:249895/1‑150 (MQ=255)                    aaTAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTg                                                                                                                        >  1:277756/1‑150 (MQ=255)                           tCCAGACACAGAAGGCAAGAGGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGcc                                                                                                                 >  1:419664/1‑150 (MQ=255)                           tCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTACCAGACAC‑AAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGcc                                                                                                                 <  3:254311/150‑1 (MQ=255)                              aGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAA‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCata                                                                                                              >  2:415367/1‑150 (MQ=255)                                acacAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATAtt                                                                                                            >  3:319029/1‑150 (MQ=255)                                acacAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTAATTTTACAGTGCCATAtt                                                                                                            >  3:22265/1‑150 (MQ=255)                                          cAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTcaca                                                                                                  >  1:456489/1‑150 (MQ=255)                                          cAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTcaca                                                                                                  >  2:370117/1‑150 (MQ=255)                                          cAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTACAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTACCATATTGTTCCTcaca                                                                                                  >  3:168168/1‑150 (MQ=255)                                           aagaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTTCTCACAt                                                                                                 >  1:477159/1‑150 (MQ=255)                                             gaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAA‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGc                                                                                               <  1:146124/150‑1 (MQ=255)                                                  aGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTTTTTTATTTTTCAAAAATCCCGGGTTTGCTGGTTTCCAGTCGC‑G‑T‑ATAAA‑GATAAGGACTATTTTTCTCATTTTCCATTGCAATATAGTTCCTCACATGcacaca                                                                                          >  2:584014/1‑150 (MQ=255)                                                   gACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAA‑AAA‑GATAACGACTATTTTTCTCTTTTTGCAGTGCCATATTGTTCGTCACATGCACACAt                                                                                         >  2:482628/1‑150 (MQ=255)                                                         tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTaa                                                                                   >  4:74149/1‑150 (MQ=255)                                                           actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑C‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGa                                                                                >  1:377982/1‑150 (MQ=255)                                                             tgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaa                                                                               >  1:337577/1‑150 (MQ=255)                                                             tgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaa                                                                               >  2:493447/1‑150 (MQ=255)                                                               atatCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaa                                                                             <  2:239711/150‑1 (MQ=255)                                                                 atCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaa                                                                           >  2:541451/1‑150 (MQ=255)                                                                  tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTTTTCCTCACATGCACATATTGGTAATGaaaaaaa                                                                          <  2:468057/150‑1 (MQ=255)                                                                   ccAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTGGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTTTTCCTCACATGCACACATTGGTAATGAAAAAAAg                                                                         >  1:461520/1‑150 (MQ=255)                                                                   ccAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAg                                                                         >  2:377530/1‑150 (MQ=255)                                                                    cAGCGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑A‑A‑AAACGATAACGACTATTTTTCTCATTTTGCAGTGACATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGa                                                                        <  1:95039/150‑1 (MQ=255)                                                                              ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCATATGCACACATTGGTAAGGAAAAAAAGACAAAACACGa                                                              >  1:208618/1‑150 (MQ=255)                                                                              ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGa                                                              <  2:18936/150‑1 (MQ=255)                                                                              ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGa                                                              >  1:339294/1‑150 (MQ=255)                                                                              ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTACCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGa                                                              >  4:392857/1‑150 (MQ=255)                                                                              ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAA‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGa                                                              >  4:99336/1‑150 (MQ=255)                                                                                cGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGGCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAgg                                                            <  2:412707/150‑1 (MQ=255)                                                                                       tatGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGgcg                                                     >  2:9853/1‑150 (MQ=255)                                                                                         tGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCa                                                   <  1:471502/150‑1 (MQ=255)                                                                                           ttttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAAt                                                 >  2:457879/1‑150 (MQ=255)                                                                                                cTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa                                            <  3:418098/150‑1 (MQ=255)                                                                                                    aTTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGtta                                        <  2:456489/150‑1 (MQ=255)                                                                                                      tttCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGttatt                                      <  2:88932/150‑1 (MQ=255)                                                                                                       ttCCCAGAAGGCCGTATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTTTTTTTCTCATTTTGCAGGGCCATATTGTTCCTCACATGCAAACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGttatta                                     <  1:365876/150‑1 (MQ=255)                                                                                                         cccAGAGGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTGTTTTTCGCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGGGGTAAGGCGCAATAGCCAGTTATTAGa                                   <  3:284239/150‑1 (MQ=255)                                                                                                                  ccGGATTTTCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGAt                          >  2:574684/1‑150 (MQ=255)                                                                                                                   cGGATTTTCTGGTTGCCGGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGGTg                         >  4:174712/1‑150 (MQ=255)                                                                                                                       ttttCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAAtt                     <  3:74149/150‑1 (MQ=255)                                                                                                                        tttCTGGTTTCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTg                    <  1:457879/150‑1 (MQ=255)                                                                                                                          tCTTGTGTCCAGTCGCTA‑A‑A‑AAA‑GATAACGACTATTGTTCTCATTTTGCAGAGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGGATTggg                  <  4:284558/150‑1 (MQ=255)                                                                                                                               tttCCAGTCGC‑GAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAg             <  1:252344/150‑1 (MQ=255)                                                                                                                                        tcgcgaaa‑aaa‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAt      <  1:87646/143‑1 (MQ=255)                                                                                                                                            gaaa‑aaa‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaa  <  3:361269/147‑1 (MQ=255)                                                                                                                                             |||                                                                                                                                                     ATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑C‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAA  >  NC_000913_3_hsa_tpiA/1543884‑1544169

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑